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Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone   +8 more
wiley   +1 more source

Adaptive Modeling of Tandem Mass Spectrometry Data: Creation of the METLIN 960K MRM Database. [PDF]

open access: yesAnal Chem
Aisporna A   +7 more
europepmc   +1 more source
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An overview of real‐world data sources for oncology and considerations for research

Ca-A Cancer Journal for Clinicians, 2022
Lynne Penberthy   +2 more
exaly  

Innovations in research and clinical care using patient‐generated health data

Ca-A Cancer Journal for Clinicians, 2020
H S L Jim   +2 more
exaly  

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